AKT3 rSNPs, Transcriptional Factor Binding Sites and Human Disease

• 作者: Norman E. Buroker
• 来源期刊: 血液病期刊(英文)
• 学科: 医学
• 关键词: AKT3 rSNPs TFBS HUMAN DISEASE
• 年，卷（期）: 2013,（4）
• 页码范围: 116-129
• 页数: 14页
• 分类号: R73

摘要

Seven rSNPs (rs10157763, rs10927067, rs12031994, rs2125230, rs2345994, rs4132509 and rs4590646) in intron one of thev-akt murine thymoma viral oncogene homolog 3 (AKT3) gene have been significantly associated with either Chronic Mountain Sickness, Renal Cell Carcinoma risk or Aggressive Prostate Cancer. These rSNP alleles alter the DNA landscape for potential transcriptional factors (TFs)?to attach, resulting in changes in transcriptional factor binding sites (TFBS). The alleles of each rSNP were found to produce unique TFBS resulting in potential changes in TF AKT3 regulation. These regulatory changes are discussed with respect to the three diseases.